Fig. 5From: Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutationsMissense variants identified in FAM111B. Conserved amino acid sequences among mammals and cluster within a putative cysteine/serine trypsin-like peptidase domain of FAM111B. Variant #1 [c.1289A > C (p.Gln430Pro)] identified in individual F9; variant #2 [c.1861 T > G (p.Tyr621Asp)] in the South-African family F10; variant #3 [c.1874C > A (p.Thr625Asn)] in individual F8; variant #4 [c.1879A > G (p.Arg627Gly)] in individuals F1, F3 and family F2; variant #5 [c.1883G > A (p.Ser628Asn) in individuals F4, F5, F6 and F7Back to article page